title: A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
abstract: The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.
authors.affiliation: 1Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Kingdom of Saudi Arabia.
authors.forename: Bashaer
authors.initials: B
authors.lastname: Al-Bulushi
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Hashem
authors.forename: Brahim
authors.initials: B
authors.lastname: Tabarki
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D004827:Epilepsy / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D005260:Female; D006429:Hemiplegia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
keywords: ATP1A2; hemiplegic attacks; intellectual disability; seizures